rs1128127
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001002862.3(DERL3):c.632C>T(p.Ala211Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.149 in 1,584,594 control chromosomes in the GnomAD database, including 23,167 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001002862.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DERL3 | NM_001002862.3 | c.632C>T | p.Ala211Val | missense_variant | 7/7 | ENST00000318109.12 | |
SMARCB1 | NM_003073.5 | c.*2765G>A | 3_prime_UTR_variant | 9/9 | ENST00000644036.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DERL3 | ENST00000318109.12 | c.632C>T | p.Ala211Val | missense_variant | 7/7 | 1 | NM_001002862.3 | P1 | |
SMARCB1 | ENST00000644036.2 | c.*2765G>A | 3_prime_UTR_variant | 9/9 | NM_003073.5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.226 AC: 34194AN: 151598Hom.: 5559 Cov.: 32
GnomAD3 exomes AF: 0.166 AC: 35198AN: 211492Hom.: 4022 AF XY: 0.166 AC XY: 19072AN XY: 115042
GnomAD4 exome AF: 0.141 AC: 202528AN: 1432878Hom.: 17592 Cov.: 38 AF XY: 0.144 AC XY: 102353AN XY: 710772
GnomAD4 genome ? AF: 0.226 AC: 34240AN: 151716Hom.: 5575 Cov.: 32 AF XY: 0.224 AC XY: 16589AN XY: 74144
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at